학술논문
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1~10
Academic Journal
Bianca Panis; E. Naomi Vos; Ivo Barić; Annet M. Bosch; Martijn C. G. J. Brouwers; Alberto Burlina; David Cassiman; David J. Coman; María L. Couce; Anibh M. Das; Didem Demirbas; Aurélie Empain; Matthias Gautschi; Olga Grafakou; Stephanie Grunewald; Sandra D. K. Kingma; Ina Knerr; Elisa Leão-Teles; Dorothea Möslinger; Elaine Murphy; Katrin Õunap; Adriana Pané; Sabrina Paci; Rossella Parini; Isabel A. Rivera; Sabine Scholl-Bürgi; Ida V. D. Schwartz; Triantafyllia Sdogou; Loai A. Shakerdi; Anastasia Skouma; Karolina M. Stepien; Eileen P. Treacy; Susan Waisbren; Gerard T. Berry; M. Estela Rubio-Gozalbo
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Mauring, L.; Puusepp, S.; Parik, M.; Roomets, E.; Teek, R.; Reimand, T.; Pajusalu, S.; Kaljurand, K.; Õunap, K.
In European Journal of Medical Genetics September 2023 66(9)
Academic Journal
Laura Roht; Hanne K. Hyldebrandt; Astrid T. Stormorken; Hilde Nordgarden; Rolf H. Sijmons; Dennis K. Bos; Douglas Riegert‐Johnson; Sarah Mantia‐Macklin; Pilvi Ilves; Kai Muru; Monica H. Wojcik; Tiina Kahre; Katrin Õunap
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Academic Journal
Sally C. Fletcher; Charlotte Hall; Tristan J. Kennedy; Sander Pajusalu; Monica H. Wojcik; Uncaar Boora; Chan Li; Kaisa Teele Oja; Eline Hendrix; Christian A.E. Westrip; Regina Andrijes; Sonia K. Piasecka; Mansi Singh; Mohammed E. El-Asrag; Anetta Ptasinska; Vallo Tillmann; Martin R. Higgs; Deanna A. Carere; Andrew D. Beggs; John Pappas; Rachel Rabin; Stephen J. Smerdon; Grant S. Stewart; Katrin Õunap; Mathew L. Coleman
The Journal of Clinical Investigation, Vol 133, Iss 7 (2023)
Academic Journal
Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S; Kant, Sarina G; Gerkes, Erica H; Firth, Helen V; Õunap, Katrin; Bird, Lynne M; Masser-Frye, Diane; Friedman, Jennifer R; Sokunbi, Modupe A; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K; McGaughran, Julie; Coe, Bradley P; Flórez, Jesús; Nadif Kasri, Nael; Brunner, Han G; Thompson, Elizabeth M; Gecz, Jozef; Romano, Corrado; Eichler, Evan E; de Vries, Bert BA
European Journal of Human Genetics. 24(5)
Academic Journal
Monika Oláhová; Bradley Peter; Zsolt Szilagyi; Hector Diaz-Maldonado; Meenakshi Singh; Ewen W. Sommerville; Emma L. Blakely; Jack J. Collier; Emily Hoberg; Viktor Stránecký; Hana Hartmannová; Anthony J. Bleyer; Kim L. McBride; Sasigarn A. Bowden; Zuzana Korandová; Alena Pecinová; Hans-Hilger Ropers; Kimia Kahrizi; Hossein Najmabadi; Mark A. Tarnopolsky; Lauren I. Brady; K. Nicole Weaver; Carlos E. Prada; Katrin Õunap; Monica H. Wojcik; Sander Pajusalu; Safoora B. Syeda; Lynn Pais; Elicia A. Estrella; Christine C. Bruels; Louis M. Kunkel; Peter B. Kang; Penelope E. Bonnen; Tomáš Mráček; Stanislav Kmoch; Gráinne S. Gorman; Maria Falkenberg; Claes M. Gustafsson; Robert W. Taylor
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Academic Journal
M. E. Rubio-Gozalbo; M. Haskovic; A. M. Bosch; B. Burnyte; A. I. Coelho; D. Cassiman; M. L. Couce; C. Dawson; D. Demirbas; T. Derks; F. Eyskens; M. T. Forga; S. Grunewald; J. Häberle; M. Hochuli; A. Hubert; H. H. Huidekoper; P. Janeiro; J. Kotzka; I. Knerr; P. Labrune; Y. E. Landau; J. G. Langendonk; D. Möslinger; D. Müller-Wieland; E. Murphy; K. Õunap; D. Ramadza; I. A. Rivera; S. Scholl-Buergi; K. M. Stepien; A. Thijs; C. Tran; R. Vara; G. Visser; R. Vos; M. de Vries; S. E. Waisbren; M. M. Welsink-Karssies; S. B. Wortmann; M. Gautschi; E. P. Treacy; G. T. Berry
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Academic Journal
Danique van Vliet; Annemiek M. J. van Wegberg; Kirsten Ahring; Miroslaw Bik-Multanowski; Nenad Blau; Fatma D. Bulut; Kari Casas; Bozena Didycz; Maja Djordjevic; Antonio Federico; François Feillet; Maria Gizewska; Gwendolyn Gramer; Jozef L. Hertecant; Carla E. M. Hollak; Jens V. Jørgensen; Daniela Karall; Yuval Landau; Vincenzo Leuzzi; Per Mathisen; Kathryn Moseley; Neslihan Ö. Mungan; Francesca Nardecchia; Katrin Õunap; Kimberly K. Powell; Radha Ramachandran; Frank Rutsch; Aria Setoodeh; Maja Stojiljkovic; Fritz K. Trefz; Natalia Usurelu; Callum Wilson; Clara D. van Karnebeek; William B. Hanley; Francjan J. van Spronsen
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Academic Journal
Wojcik, M.H.; Agrawal, P.B.; Win, W.; Stenton, S.L.; Madden, J.A.; Lin, J.; Genetti, C.A.; Gazda, H.T.; Beggs, A.H.; O'Donnell-Luria, A.; Lemire, G.; Pais, L.; Groopman, E.; Ganesh, V.S.; Shril, S.; Schneider, R.; Hildebrandt, F.; Chung, W.K.; Wissmann, M.; Verboon, J.M.; Sankaran, V.G.; Cato, L.D.; Sanchis-Juan, A.; Goodrich, J.; Gburek-Augustat, J.; Fu, J.M.; Brand, H.; Talkowski, M.; Austin-Tse, C.; Rehm, H.L.; Pierce, E.A.; Place, E.M.; Bujakowska, K.M.; Weisburd, B.; VanNoy, G.E.; Snow, H.; Singer-Berk, M.; Seaby, E.G.; Russell, K.A.; Osei-Owusu, I.; O'Leary, M.; O'Heir, E.; Mangilog, B.E.; MacArthur, D.; Lovgren, A.; Evangelista, E.; England, E.; DiTroia, S.; Chao, K.R.; Baxter, S.M.; Berger, E.; Strehlow, V.; Radtke, M.; Popp, D.; Platzer, K.; Opperman, H.; Hentschel, J.; Bartolomaeus, T.; Jamra, R.A.; Merkenschlager, A.; Wieczorek, D.; Syrbe, S.; Polster, T.; Zaki, M.S.; White, S.M.; Tan, T.Y.; Gallacher, L.; Christodoulou, J.; Waddell, L.B.; Marchant, R.G.; Cooper, S.T.; Bryen, S.J.; Ravenscroft, G.; Laing, N.; Ghaoui, R.; Topf, A.; Straub, V.; Silver, J.; Morel, C.F.; Lerner-Ellis, J.P.; Reinson, K.; Pajusalu, S.; Ounap, K.; Oja, K.T.; Okur, V.; Ganapathi, M.; Gleeson, J.G.; Donkervoort, S.; Bonnemann, C.G.
In: New England Journal of Medicine . (New England Journal of Medicine, 6 June 2024, 390(21):1985-1997)
Academic Journal
Vos, N.; van der Laan, L.; Russel, P.K.M.; Maas, S.M.; Elting, M.W.; van Hagen, J.M.; Lakeman, P.; Jansen, S.; Duijkers, F.A.M.; Mannens, M.M.A.M.; Alders, M.; Henneman, P.; van Haelst, M.M.; Haghshenas, S.; Rooney, K.; Levy, M.A.; Relator, R.; Kerkhof, J.; McConkey, H.; Sadikovic, B.; Vissers, L.E.L.M.; de Vries, B.B.A.; Pfundt, R.; Verbeek, N.E.; Jongmans, M.C.J.; van den Boogaard, M.-J.H.; Rumping, L.; Bosch, D.G.M.; Donker-Kaat, L.; Stuurman, K.E.; Vitobello, A.; Thauvin-Robinet, C.; Faivre, L.; Nambot, S.; Garde, A.; Willems, M.; Genevieve, D.; Nicolas, G.; Busa, T.; Toutain, A.; Gérard, M.; Bizaoui, V.; Isidor, B.; Merla, G.; Accadia, M.; Schwartz, C.E.; Ounap, K.; Hoffer, M.J.V.; Nezarati, M.M.; Tedder, M.L.; Rogers, C.; Brusco, A.; Trajkova, S.; Ferrero, G.B.; Spodenkiewicz, M.; Sidlow, R.; Mussa, A.; McCann, E.; Mroczkowski, H.J.; White, S.M.
In: Human Genetics . (Human Genetics, June 2024, 143(6):761-773)
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